儿童Lowe综合征1例报道

Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (8) : 927-928.

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (8) : 927-928. DOI: 10.11852/zgetbjzz2018-26-08-32

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[1] B KENKAMP A, LUDWIG M. The oculocerebrorenal syndrome of Lowe: an update[J]. Pediatr Nephrol, 2016, 31(12): 2201-2212.
[2] Lin T, Orrison BM, Leahey AM, et al. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients[J]. Mol Genet Metab, 1998, 64(1): 58-61.
[3] Zhang YQ, Wang F, Ding J, et al. Novel OCRL muta-tions in Chinese children withLowe syndrome[J]. World J Pediatr, 2013, 9(1): 53-57.
[4] 陈素琴,张新愉,陈路明,等.一例Lowe综合征男婴的OCRL基因突变分析[J].中华医学遗传学杂志,2014,31(2):223-227.
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